ClinVar Miner

List of variants in gene BRIP1 reported as benign for Hereditary breast ovarian cancer syndrome

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765 0.74166
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763 0.60694
NM_032043.3(BRIP1):c.2905+83T>A rs4988357 0.33913
NM_032043.3(BRIP1):c.1340+109G>A rs2191248 0.25912
NM_032043.3(BRIP1):c.508-31C>G rs4988344 0.15259
NM_032043.3(BRIP1):c.93+72T>G rs4988342 0.07661
NM_032043.3(BRIP1):c.507+67T>C rs73991950 0.03383
NM_032043.3(BRIP1):c.94-18T>G rs2138005 0.03086
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_032043.3(BRIP1):c.1935+11G>A rs79121306 0.00051
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg) rs45501097 0.00002
NM_032043.3(BRIP1):c.2257+34del rs2144693780
NM_032043.3(BRIP1):c.2257+42del rs2144693661
NM_032043.3(BRIP1):c.2492+80A>G rs9901948
NM_032043.3(BRIP1):c.2643G>A (p.Leu881=) rs2144116635

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